"Ambry Genetics"[submitter] AND "LOC129935182"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1619812	NM_001267550.2(TTN):c.106134C>A (p.Ala35378=)	LOC129935182, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 512644	NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val)	LOC129935182, TTN +1 more (A33737V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 179078	NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr)	LOC129935182, TTN +1 more (F32806Y +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1064035	NM_001267550.2(TTN):c.106117C>A (p.Gln35373Lys)	LOC129935182, TTN +1 more (Q26308K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 651058	NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs)	LOC129935182, TTN +1 more (L26432fs +5 more)	Duplication (frameshift variant)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 1761050	NM_001267550.2(TTN):c.106108A>G (p.Thr35370Ala)	LOC129935182, TTN +1 more (T26305A +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 733262	NM_001267550.2(TTN):c.106101G>A (p.Thr35367=)	TTN-AS1, LOC129935182 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1469597	NM_001267550.2(TTN):c.106054T>C (p.Ser35352Pro)	LOC129935182, TTN +1 more (S26287P +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 238697	NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys)	LOC129935182, TTN +1 more (N35348K +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity